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Article

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease.

Annals of neurology - 1 Jul 1999

Blumen S C, Brais B, Korczyn A D, Medinsky S, Chapman J, Asherov A, Nisipeanu P, Codère F, Bouchard J P, Fardeau M, Tomé F M, Rouleau G A

Abstract excerpt

Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) usually begins with ptosis or dysphagia during the fifth or sixth decade of life. We studied 7 patients with OPMD symptoms starting before the age of 36 years. All were found to be homozygotes for the dominant (GCG)9 OPMD mutation. On a...

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Source

Identifiers

PMID: 10401788

Genes

GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10401788-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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